Friday, May 5, 2017

Scientists Discover Genetic Mutation That Causes Rare Skin Disease Keratolytic Winter Erythema

Scientists have now discovered the genetic mutation that is responsible for KWE in Afrikaners. The skin disease causes redness in the palms of the hands, as well as the soles of the feet followed by cycles of large areas of peeling skin. The symptoms are exaggerated in the winter, when the disease is at its peak in the cycle. A town in the Western Cape of South Africa is where it is most prevalence, affecting large families in this region. Keratolytic Winter Erythema, as well as other diseases such as familial Hypercholesterolemia, and porphyria are very common in this area as it has been observed the Afrikaner people have genetic predispositions for them. It has been a recent discovery that KWE is genetically linked instead of an environmental affect, as previously thought. Professor George Findley described the mode of inheritance as being dominant, and an unfortunate disease to have. Although this disease is extremely uncomfortable to live with, it can now be prevented in future generations with genetic counseling. I believe efforts like these to find the root of problems happening in populations are vital in society, especially when we wish to prevent them from occurring.

Medical Express

Could Genetics Influence What We Like To Eat?

Gene variants that affect the way our brain works could also affect our primary diet, and what we like to eat even if they are not good for us. Silvia Berciano, an undergrad at the University of Madrid, presents his findings and states that most have trouble changing their dietary habits because of specific brain genes that people have predetermined preferences. These preferences can make it extremely easy or extremely hard for someone to eat healthier and improve their well-being. These genes are similar to those that are said to cause anorexia and bulimia. This could also explain why this disease can be seen amongst family members. I find this article to be especially interesting because I have know individuals who were a mother and daughter who both struggled with eating disorders. I think genes can have a lot to do with one's feelings towards food.

Medical Press

Iceland's Genetic Goldmine

A fairly homogenous population, the people of Iceland prove to be very valuable to the field of genetics. The secluded society of Iceland demonstrates a term known as the founder affect which means a lot of the population descended from common ancestors. The genealogical records are incredible, having libraries of ancestors before them, accounting for most of the people in this part of the world. Kari Stefansson, the chief executive and founder of deCODE genetics, set out with his company to discover the unique genetic make up of his native land. According to his work, the Iceland population shows a larger prevalence in rare genetic variants in disease than those who are "outbred". Learning about how a disease may come about, especially with a detailed medical record of ancestors in one population, may help to prevent them from occurring again. This type of work may also help in genetic counseling to predict the likelihood of rare variants occurring in the future in populations other than in Iceland. I believe this type of work is very important, and we are very lucky to have a place like Iceland where there is a detailed history and a small population to observe.


Cross-Cultural Evidence for the Genetics of Homosexuality

Scientists at the University Lethbridge in Canada have shown in their research there is evidence that common genetic factors underlie in homosexual preference in men in multiple cultures. In south Mexico there are individuals called muxes which describes them as being biologically male and being attracted to other males. In the Mexican culture, they are recognized as a third gender and have shown correlations with homosexual males in other cultures. There has been something recognized as the fraternal birth order effect, which means the likelihood of a male being attracted to the same sex increases if there are a multitude of older brothers born before him. In Western culture, the homosexual man recall higher levels of separation anxiety compared to the heterosexual man. This means at some point during their lifetime, they were left by an important figure. Molecular genetic studies have shown that Xq28, a region on the top of the X chromosome is responsible for both anxiety levels and and male homosexuality. This means there is a possible genetic predisposition for both in humans. As research continues on this topic, the outcome could have political affects, as some parties believe this life style is a choice while others do not. I believe it would be interesting to see if there is a real genetic reason for homosexuality and think it could help the argument of whether or not it is a personal choice, or there is a scientific reason behind it.

Scientific American

You Can Now Buy a Commercial Genetic Test, But Don't Treat it Like a Pregnancy Test

So far, commercial testing is now available for genetic diseases like Alzheimers, although it is not the "tell all" if the individual will develop the disease. The author of this article claims things like genetic testing cannot really define whether or not the disease will exist in you or your family because age has a lot to do which the way the genes are present. As beneficial as this process may sound, and be to the customer, it also poses a privacy threat amongst relatives. The information gained from tests like these not only tell a great deal about the individual's health, but those who are related to them that may not want to know the knowledge gained from the analysis. It would be unfair for a sibling to relay possible fatal information that one may not want to know. Commercializing genetic tests makes this easier to occur without the pre and post-test counseling that is put in place with professional genetic councilers. Possible consequences of this raw knowledge without speaking to a professional to fully understand the results are the effect on mental health, finances and employment prospects, life and health insurance, marriage, and childbearing. I do not believe individuals should have this information at their disclosure without truly understanding what the results mean and how it could affect family members. I believe it is not right for individuals to tell relatives their genetic background if it could endanger the way they live their lives. 

Ancient Horse DNA shows Scythian Warrior Were Adept Domesticators

Horse sacrificed by fierce nomad living in central asia more than 2,000 years ago have provided new insight into how people tamed the wild animals and bred them to their needs.  The scythians roamed over a vast swath from siberia to the black sea.  They were known for their equestrian battle skills, shooting bow and arrow while riding, and for the brutal treatment of those they defeated (blinded their slaves or drank the their blood). The scientist using horse skeleton to extract DNA and they were able to decipher the genomes for 11 of the 13 horse from the scythian mound, they analyzed DNA of the horse dating 4,100 years ago that belong to neighbor tribe sintashta. Who had already figured out how to use horse. From the DNA the horse are bred for certain characteristics such as thicker stockier forelimb. many genetic change also showed that change were related to the "neural crest" the cell that become the spinal cord during embryonic development, but migrate to various part of the body. The finding point out the impact that human had on the environment and the evolution of the other species for millenniums.

Life with a Rare Genetic Disease: The science, the suffering and the Hope

Life with  a rare genetic diseases sometime can be nasty, brutish and long. Taking the ordinary difficulties of getting through the day and add loss of motor function, a deteriorating memory or block vein in the liver and a body so swollen with lymphatic fluid that cloth  and shoe no longer fit. this is a life of family member with mysterious illness which cause by "the family gene" and occasionally beset by incorrect explanation of the science. BRCA1, for example , is not a gene variant but rather a gene that can harbor any one of hundreds of rare variant or DNA spelling error, that would raise the woman's risk of breast  or ovarian cancer. for it part," mercie in disguise" sometime suffer from general humorlessness and heavy handed prose  but the patient would have deal with. while the cost of  DNA sequencing has drop and  which also help many rare-disease patient and their families find answer to question "why me?". But the completion of the human genome project is not the answer however it would let human understand our history and genetic better and find the solution.

Dog DNA study maps breeds across the world

Scientists have analyzed 161 breeds of dog's DNA. Over the past 20 years, dogs have been bred to do different things, depending on what they are needed for. Dogs used to be used for hunting and gathering, now there are many hybrid breeds that are available. Dogs origins can be traced to two basic places in the world the United Kingdom or the Mediterranean. Many dogs like the mastiff has not changed genetically over the years. This article was very interesting to read. Dogs are very important in the world and majority of people have them. Now with all these different dog breeds breeding together, this genetic mapping of them will allow us to better understand what dogs are good for what area.